THE SKELETAL DYSPLASIA REGISTRY - GENETICS AND THE PATHOGENESIS

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The skeletal dysplasias are a heterogeneous group of disorders which result in disproportionate short stature and/or skeletal deformities. This study involves a multidisciplinary investigation of the clinical, genetic, morphologic, biochemical and molecular characteristics of the skeletal dysplasias. The International Skeletal Dysplasia Registry (ISDR) is involved in defining new skeletal (bone and cartilage) disorders and has been a unique national and international resource in the genetics community. The study objective is to collect information about skeletal disorders in order to better understand these conditions and help doctors and patients with their diagnosis and treatment. The study also identifies new types of skeletal disorders, their characteristics, their causes and determines how they are inherited. By collecting information and material from individuals with skeletal disorders we are able to elucidate a better understanding of the natural history of these disorders, as well as identify the genes that are defective for many of these diseases. There are approximately 200 different disorders in this group and, at present, many of the genes for this group of disorders are yet to be identified and studied. In the ISDR we conduct research in several ways. Each case undergoes a review of clinical information, as well as an evaluation of the x-rays. In addition, for a subset of the cases, a blood or tissue (bone, skin, cartilage etc.) sample for detailed analysis is collected and stored. In some cases, these materials are shared with other researchers studying the skeletal dysplasias. We potentially enroll approximately 100 subjects a year at Cedars-Sinai, and an additional 400-500 subjects from throughout the United States. Subjects with skeletal disorders and their families are invited to participate. There are no exclusion criteria - subjects are not excluded based on gender, age, race or ethnicity. The longstanding involvement and national reputation of the ISDR in all aspects of care and research on skeletal disorders has allowed us to collect a great deal of information regarding these conditions. We feel that our efforts have contributed a great deal to the current understanding of the skeletal dysplasias and expect that the efforts under this study will continue to significantly contribute to the understanding of skeletal disorders for the foreseeable future. In the future the GCRC will continue to assist in specimen collection for these molecular studies.